Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder.

BACKGROUND: Cognitive impairment of intellectual developmental disorders (IDD) is determined by several different combinations of specific cognitive alterations. People with IDD present a rate of mental health problems that is up to 4 times higher than that of the general population. Despite this, the relationship between specific cognitive dysfunctions and co-occurring mental disorders has not been adequately studied. The aim of the present paper is to investigate the association between specific cognitive dysfunctions and specific psychiatric symptoms and syndromes in people with IDD. METHODS: One hundred and twenty adults with mild to moderate IDD living in residential facilities underwent a clinical and instrumental assessment for specific cognitive and psychopathological features. RESULTS: Participants with IDD and ASD have significantly lower scores compared to those without respect to who has not the diagnosis on the Processing Speed Index (PSI) and Perceptual Reasoning Index (PRI) on the WAIS-IV and higher time scores on the TMT A. Moreover, there is a significant association between years of hospitalisation and TMT B and TMT B A time scores; the longer a participant with IDD was hospitalised, the worse their performance on the TMT. Although not statistically significant, many psychopathological clusters showed substantial cognitive profiles. CONCLUSIONS: Although further research is needed, neuropsychological and IQ tests scores seem to be differently associated to various psychopathological conditions co-occurring with IDD, and with ASD especially. Cognitive assessment seems to support diagnosis and treatment of psychopathological co-occurrences in persons with IDD, also in consideration of indirect implications including a better knowledge of the patient's characteristics beyond IQ deficit.

Evaluation of laccase production by Ganoderma lucidum in submerged and solid-state fermentation using different inducers.

Laccases are multicopper oxidases with high potential for industrial applications. Several basidiomycete fungi are natural producers of this enzyme; however, the optimization of production and selection of inducers for increased productivity coupled with low costs is necessary. Lignocellulosic residues are important lignin sources and potential inducers for laccase production. Pinus taeda, a dominant source of wood-based products, has not been investigated for this purpose yet. The aim of this study was to evaluate the production of laccase by the basidiomycete fungus Ganoderma lucidum in the presence of different inducers in submerged and solid-state fermentation. The results of submerged fermentation in presence of 5 µM CuSO 4 , 2 mM ferulic acid, 0.1 g/L P. taeda sawdust, or 0.05 g/L Kraft lignin indicated that although all the tested inducers promoted increase in laccase activity in specific periods of time, the presence of 2 mM ferulic acid resulted in the highest value of laccase activity (49 U/L). Considering the submerged fermentation, experimental design following the Plackett-Burman method showed that the concentrations of ferulic acid and P. taeda sawdust had a significant influence on the laccase activity. The highest value of 785 U/L of laccase activity on submerged fermentation was obtained on the seventh day of cultivation. Finally, solid-state fermentation cultures in P. taeda using ferulic acid or CuSO 4 as inducers resulted in enzymatic activities of 144.62 and 149.89 U/g, respectively, confirming the potential of this approach for laccase production by G. lucidum.

Interarm systolic blood pressure difference is associated with left ventricular concentricity and concentric remodeling.

OBJECTIVE: Interarm systolic blood pressure difference (IASD) values >15 mmHg (IASD > 15) are associated with increased cardiovascular risk, yet the underlying mechanisms remain unclear. This report evaluated whether IASD >15, assessed by different protocols [sequential or simultaneous; based on one or several blood pressure (BP) readings], was associated with adverse left ventricular (LV) remodeling. METHODS: This cross-sectional study evaluated 605 individuals who underwent clinical and echocardiography evaluation and three pairs of simultaneous arm BP readings. IASD was estimated by seven distinct protocols (three simultaneous and four sequential BP measurements criteria). RESULTS: The cohort had a mean age of 53.5 ±â€Š15.4 years, with 51% being women, 23% with LV hypertrophy, 14% with LV concentricity, 69% with normal geometry, 8% with concentric remodeling, 17% with eccentric hypertrophy and 6% with concentric hypertrophy. Multivariable logistic regression revealed that IASD >15 defined by simultaneous measures of the last two pairs of BP readings (IASDsim2) and sequential arm BP readings (right-left-right arm sequence; IASDseq3) were related to LV concentricity (odds ratio [95% CI] = 3.24 [1.02-10.28], P = 0.046 and 2.56 [1.09-6.00], P = 0.030, respectively) and LV concentric remodeling (odds ratio [95% CI]  = 4.12 [1.08-15.78], P = 0.039 and 4.16 [1.61-10.76], P = 0.003, respectively). Conversely, IASD >15 defined by any criteria showed no association with LV hypertrophy. CONCLUSION: Individuals with IASD >15 defined by IASDsim2 and IASDseq3 are associated with adverse LV remodeling, namely LV concentricity and LV concentric remodeling. These findings suggest that both criteria might be potentially used to preferentially assess abnormal IASD in the setting of clinical practice.

DNA damage checkpoints and DNA replication controls in Saccharomyces cerevisiae.

In response to genotoxic agents and cell cycle blocks all eukaryotic cells activate a set of surveillance mechanims called checkpoints. A subset of these mechanisms is represented by the DNA damage checkpoint, which is triggered by DNA lesions. The activation of this signal transduction pathway leads to a delay of cell cycle progression to prevent replication and segregation of damaged DNA molecules, and to induce transcription of several DNA repair genes. The yeast Saccharomyces cerevisiae has been invaluable in genetically dissecting the DNA damage checkpoint pathway and recent findings have provided new insights into the architecture of checkpoint protein complexes, in their order of function and in the mechanisms controlling DNA replication in response to DNA damage.

Thermal and chemical characterization of Dicksonia sellowiana extract by means of thermal analysis

Abstract Dicksonia sellowiana Hook., Dicksoniaceae, is a tree-fern which is being recently used in medicine mainly for its phytotherapic activities. While several other studies have focused on D. sellowiana extract characterization in terms of its biological and antioxidant activity, the novelty of this work aims to understand the fate of this extract during thermal disposal through thermogravimetry/differential thermal analysis, thermogravimetry/mass spectrometry, Fourier transform infrared spectroscopy and elemental analysis, to further characterize this plant's extract. Thermal analysis revealed mass loss within three well-defined steps, with the respective mass signals represented generated during heating. Light-volatiles were released during the first step, with release of NO2, CO2, and ethanol in the following, as a result of extract pyrolytic decomposition. Furthermore, mass signals variation during heating indicated the release of harmless by products in contrast to other pharmaceutical and personal care products. Finally, chemical characterization confirmed the observed under thermal analysis suggesting a highly polar structure within extract's composition.

Regulation of Saccharomyces Rad53 checkpoint kinase during adaptation from DNA damage-induced G2/M arrest.

Saccharomyces cells with one unrepaired double-strand break (DSB) adapt after checkpoint-mediated G2/M arrest. Adaptation is accompanied by loss of Rad53p checkpoint kinase activity and Chk1p phosphorylation. Rad53p kinase remains elevated in yku70delta and cdc5-ad cells that fail to adapt. Permanent G2/M arrest in cells with increased single-stranded DNA is suppressed by the rfa1-t11 mutation, but this RPA mutation does not suppress permanent arrest in cdc5-ad cells. Checkpoint kinase activation and inactivation can be followed in G2-arrested cells, but there is no kinase activation in G1-arrested cells. We conclude that activation of the checkpoint kinases in response to a single DNA break is cell cycle regulated and that adaptation is an active process by which these kinases are inactivated.

Use of newborn Girardia tigrina (Girard, 1850) in acute toxicity tests.

Acute toxicity tests, exposing Girardia tigrina to potassium dichromate (K(2)Cr(2)O(7)), showed good reproducibility. The 95% confidence intervals among tests were 0.0262+/-0.0141 g for 48-h LC(50) (N=6) and 0.0129+/-0.0078 g for 96-h LC(50) (N=5). The 96-h LC(50) for G. tigrina was below that of oligochaetes and above that of cladocera.

S-phase DNA damage checkpoint in budding yeast.

Eukaryotic cells must be able to coordinate DNA repair, replication and cell cycle progression in response to DNA damage. A failure to activate the checkpoints which delay the cell cycle in response to internal and external cues and to repair the DNA lesions results in an increase in genetic instability and cancer predisposition. The use of the yeast Saccharomyces cerevisiae has been invaluable in isolating many of the genes required for the DNA damage response, although the molecular mechanisms which couple this regulatory pathway to different DNA transactions are still largely unknown. In analogy with prokaryotes, we propose that DNA strand breaks, caused by genotoxic agents or by replication-related lesions, trigger a replication coupled repair mechanism, dependent upon recombination, which is induced by the checkpoint acting during S-phase.

Activation of Rad53 kinase in response to DNA damage and its effect in modulating phosphorylation of the lagging strand DNA polymerase.

The Saccharomyces cerevisiae Rad53 protein kinase is required for the execution of checkpoint arrest at multiple stages of the cell cycle. We found that Rad53 autophosphorylation activity depends on in trans phosphorylation mediated by Mec1 and does not require physical association with other proteins. Uncoupling in trans phosphorylation from autophosphorylation using a rad53 kinase-defective mutant results in a dominant-negative checkpoint defect. Activation of Rad53 in response to DNA damage in G(1) requires the Rad9, Mec3, Ddc1, Rad17 and Rad24 checkpoint factors, while this dependence is greatly reduced in S phase cells. Furthermore, during recovery from checkpoint activation, Rad53 activity decreases through a process that does not require protein synthesis. We also found that Rad53 modulates the lagging strand replication apparatus by controlling phosphorylation of the DNA polymerase alpha-primase complex in response to intra-S DNA damage.

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt. The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.